Phenotypic manifestation of congenital transverse amputation of autopod in Pakistani subjects

Riaz, Hafiza Fizzah; Lal, Karmoon; Ullah, Saif; Bhatti, Nadeem; Ullah, Waheed; Malik, Sajid

doi:10.12669/pjms.322.8850

Cited by 3 publications

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“…However, in this case, the questions above did not befall according her. Although there are various suspicion about the causes of hemimelia, some authors state that its etiology is unknown (Macrí et al, 2009;Pisoni et al, 2012;Peres et al, 2013;Macrí et al, 2014), including in humans (Riaz et al, 2016). In this case, the presence of consanguinity, as reported by the owner, can be considered as a possible cause of dysostosis, in accordance with Prats (2005).…”

Section: Discussionsupporting

confidence: 66%

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Transverse Terminal Humeral Bilateral Hemimelia in a Dog – Case Report

Moreira

Medeiros

Costa

et al. 2016

AVB

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-Hemimelia is a rare congenital anomaly, characterized by the absence of a part or the whole distal segment of a body member. It is usually unilateral and is classified according to the affected bone segments. In the transverse terminal hemimelia, there is the absence of the whole distal part of a body member, what is defined as congenital amputation. Several studies about cats and dogs concluded that radial hemimelia is the most usual. However, other types of this anomaly are rarely observed in dogs. Therefore, the aim of this study is to report a case of transverse terminal humeral bilateral hemimelia in a mixed-breed dog. In the physical exam was observed a bilateral malformation of the thoracic members. The radiographs revealed the presence of a well-developed scapula, humeral vestiges and the absence of other appendicular segments on the right and left antimeres, what made the hemimelia diagnosis possible. Consanguinity was the probable cause of the anomaly. Because of the scarcity of scientific reports about this pathology in dogs, further studies are needed to investigate the here observed.Keywords: canids; congenital amputation; bones.RESUMO -Hemimelia é uma rara anomalia congênita caracterizada pela ausência de parte ou todo o segmento distal de um membro, de ocorrência geralmente unilateral e classificada de acordo com os segmentos ósseos afetados. Na hemimelia transversa terminal toda a porção distal de um membro está ausente, sendo definida como amputação congênita. Diversos estudos em cães e gatos reportam a hemimelia radial, sendo esta a forma mais frequente. Não obstante, raras são as abordagens em cães acerca das demais apresentações da hemimelia. Assim, este estudo objetiva relatar um caso de hemimelia transversa terminal umeral bilateral em um cão mestiço. No exame físico, observou-se má formação dos membros torácicos. As imagens radiográficas revelaram nos antímeros direito e esquerdo a presença de escápula desenvolvida, resquícios umerais e ausência dos demais segmentos apendiculares, permitindo assim o diagnóstico de hemimelia. Como causa provável constou apenas o fator de consanguinidade. Devido escassez de abordagens científicas acerca deste tipo de patologia em cães, demais estudos são necessários para investigar o aqui observado. Palavras-

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Section: Discussionsupporting

confidence: 66%

“…In general, the fetal anomalies can be a result of an unbalanced diet during the pregnancy, drug administration or viral infections (Johnson, Kenneth and Watson, 2014;Riaz et al, 2016). However, the etiology of hemimelia is still unknown.…”

Section: Introductionmentioning

confidence: 99%

Transverse Terminal Humeral Bilateral Hemimelia in a Dog – Case Report

Moreira

Medeiros

Costa

et al. 2016

AVB

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“…Based mainly on convenience sampling, this study is a pilot attempt to estimate the prevalence of limb defects in the adult population. There are no published data available that can indicate the spectrum of limb anomalies in RYK, although a few case studies of specific disease types have been published [ 18 , 19 ]. Nationwide health surveys are regularly conducted in many countries to update the existing disease prevalence, assess their impact on society, and identify demographic correlates and risk factors [ 4 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

Congenital limb defects in a married female population of the Rahim Yar Khan District in Pakistan

Riaz

Malik

2021

Asian Biomedicine

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Background Congenital limb defects (CLD) have a range of phenotypes and can be a substantial cause of disability. The prevalence of CLD in the adult population of Pakistan is not well described. Objectives To investigate the prevalence of CLD and their associated factors in a married female population of the Rahim Yar Khan (RYK) District in Pakistan. Methods A cross-sectional population-based study was conducted in 4 tehsils of RYK District, and married women and girls from 22 different localities were enrolled by convenience sampling in public places and through door-to-door visits. Data regarding limb phenotype and demographic variables were obtained from participants. Results We enrolled 2,204 married women and girls. We found 11 participants with CLD suggesting a prevalence of 4.99/1,000 (proportion: 0.005; 95% confidence interval [CI] <0.001–0.01). Polydactyly was the most frequent (n = 5; prevalence: 2.27/1,000), followed by others in the following sequence: brachydactyly (n = 4; prevalence: 1.81/1,000), camptodactyly (n = 1; prevalence: 0.45/1,000), and oligodactyly (n = 1; prevalence: 0.45/1,000). The odds of occurrence of CLD were higher in individuals originating from Khanpur tehsil (odds ratio [OR] 2.05; 95% CI 0.37–11.27), speaking languages other than Punjabi and Saraiki (OR 2.35; 95% CI 0.24–22.80), belonging to Araien caste (OR 2.35; 95% CI: 0.24–22.80), of a nuclear family (OR 3.35; 95% CI 0.79–16.97), or having parental consanguinity (OR 1.87; 95% CI 0.49–7.06). Conclusion Preliminary estimate of CLD prevalence in the married female sample population in RYK appears high compared with estimates from birth defects registries in other countries.

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“…Owing to rarity, this group of malformations has not gained much attention among the researchers. 16,17 Few epidemiological studies published from Pakistan have revealed that CLD constitute a sizable group among the limb anomalies in certain Pakistani populations. [18][19][20][21] The aim of the current study was to document the prevalence pattern, phenotypic manifestations, and descriptive genetic profile of CLD in a cohort of patients from the North Western region of Pakistan.…”

Section: Introductionmentioning

confidence: 99%

Prevalence pattern, phenotypic manifestation, and descriptive genetics of congenital limb deficiencies in Pakistan

Bibi

Uddin

Naeem

et al. 2023

Prosthetics &Amp; Orthotics International

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Background: Congenital limb deficiency (CLD) is a group of very rare disorders characterized by substantial hypoplasia or the complete absence of 1 or more bones of limbs. Congenital limb deficiency has a significant physical, clinical, and psychological burden on the affected individuals and their families. This cross-sectional study aimed to describe the prevalence pattern, phenotypic manifestations, and biodemographic factors associated with CLD in a cohort assembled from the Pakistani population from the Northwestern region. Methods: Through a prospective cross-sectional study, 141 individuals having 166 limbs with CLD were recruited during 2017‐2021. Results: There were 77 (55%) individuals with transverse defects, 61 (43%) with longitudinal defects, and 3 (2%) with Intercalary defects. Among the patients with transverse defects, 52 had terminal amputations and 25 had symbrachydactyly. Among the longitudinal defects, thumb aplasia/hypoplasia was the most common presentation (20 patients), followed by oligodactyly (18), and radial hemimelia (18). Eighty six percent had upper-limb deficiencies, 83% had unilateral deficiencies, and 92% were sporadic in nature. The parental consanguinity was observed in 33% individuals, and 79% cases had an isolated presentation which may be indicative of the substantial role of nongenetic factors in the etiology of CLD. Conclusions: This study demonstrates marked heterogeneity in CLD subtypes in the involvement of limbs and associated variables. There is a need to establish a national registry for CLD, molecular genetic diagnosis, and multidisciplinary medical and social rehabilitation services for these individuals.

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Phenotypic manifestation of congenital transverse amputation of autopod in Pakistani subjects

Cited by 3 publications

References 4 publications

Transverse Terminal Humeral Bilateral Hemimelia in a Dog – Case Report

Transverse Terminal Humeral Bilateral Hemimelia in a Dog – Case Report

Congenital limb defects in a married female population of the Rahim Yar Khan District in Pakistan

Prevalence pattern, phenotypic manifestation, and descriptive genetics of congenital limb deficiencies in Pakistan

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